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Endocrine Disorders

With over 175 rare endocrine disorders, we highlight many of them in this section and provide clinically relevant perspectives.

FDA Approves New Therapies for MPS IIIA and SMA | The CheckRare Brief Ep 8

FDA Approves New Therapies for MPS IIIA and SMA | The CheckRare Brief Ep 8

Sep 23, 2026 | , , , , , , , , , , , , , ,

This week we discuss the FDA's approval of Isembyld for SMA, the approval of a gene therapy for MPS IIIA, and the FDA's Center for Devices and Radiological Health new Rare Disease Impact Initiative.    Approval of Isembyld for Spinal Muscular Atrophy The FDA...

Second Indication for Aqneursa in Ataxia Telangiectasia

Second Indication for Aqneursa in Ataxia Telangiectasia

Sep 22, 2026 | , , , , , ,

The US Food and Drug Administration (FDA) has approved Aqneursa (levacetylleucine) for oral suspension to treat ataxia in patients with ataxia-telangiectasia who weigh at least 33 pounds (15 kg).  It is the first treatment approved for this rare condition.

First-Line Therapy Approved for Rare Lung Cancer | The CheckRare Brief Ep 7

First-Line Therapy Approved for Rare Lung Cancer | The CheckRare Brief Ep 7

Sep 15, 2026 | , , , , , , , , , , , , , , , , , , ,

This week, three developments highlight the rapidly changing rare disease treatment landscape: a Phase 3 setback in Angelman syndrome, continued competition in hereditary angioedema, and an FDA decision expanding access to a targeted lung cancer therapy.

More

New Huntington’s Disease Gene Therapy Application | The CheckRare Brief Ep 6

Sep 9, 2026 | , , , , , , , , , , , , , , , , , , ,

  In this episode of The CheckRare Brief, we discuss two recent FDA approvals for rare diseases, including Zanvastro for Alexander disease and Besremi for essential thrombocythemia (ET). We...

Data on Maribavir in Post-Transplant Cytomegalovirus

Sep 8, 2026 | , , , , , , , , , , , , , , ,

Neil Inhaber, MD, FRCPC, Therapeutic Area Head of Global Medical, Rare Disease at Takeda, discusses data on maribavir in post-transplant cytomegalovirus (CMV) presented at the American Transplant...

New FDA Approvals for Rare Diseases: From Autoimmune Disorders to Pancreatic Cancer | The CheckRare Brief Ep 5

Sep 3, 2026 | , , , , , , , , , , , , , , , ,

  In this episode of The CheckRare Brief, we discuss four recent FDA approvals, including LISRAYA for dermatomyositis and Imaavy for warm autoimmune hemolytic anemia (wAIHA), Mimrylo for...

Getting a Rare Disease Drug Approved Is Only Half the Battle | The CheckRare Brief Ep 4

Aug 26, 2026 | , , , , , , , , , , , , , , , , , , ,

  FDA approval is a major milestone, but for patients with rare diseases, it is only the beginning. In this episode of The CheckRare Brief, we look at two new rare disease approvals, ongoing...

FDA Approves New Narcolepsy Treatment | The CheckRare Brief

Aug 13, 2026 | , , , , , , , , , , , , , , , , , , , , , ,

  On this week’s episode of The CheckRare Brief, we discuss FDA's approval of Orzeyful (oveporexton) to treat patients with narcolepsy type 1, CAMP4’s first-in-human clinical trial for patients...

FDA Advisory Board’s Concerns About New Duchenne Drug, Brain Fog in Immune Thrombocytopenia

Aug 8, 2026 | , , , , , , , , , , , , , , , , , , , , , , ,

The CheckRare Brief delivers a concise summary of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights,...

Recent Videos

Karen A. Jones, EdD, President and CEO of wAIHA Warriors, discusses the approval of Imaavy (nipocalimab) and its impact on patients with warm autoimmune hemolytic anemia (wAIHA).

Karen A. Jones, EdD, President and CEO of wAIHA Warriors, discusses the approval of Imaavy (nipocalimab) and its impact on patients with warm autoimmune hemolytic anemia (wAIHA).

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YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLldyT241bkJ1Mk84

What the Approval of IMAAVY Means for Patients With wAIHA

CheckRare September 24, 2026 12:00 am

My name is Dr. Joshua Zeidner, and I’m a Professor of Medicine and Chief of Leukemia Research at the University of North Carolina Lineberger Cancer Center. I’m here today to raise awareness around an active global, phase 3, double-blind trial evaluating a combination regimen for participants with a specific type of acute myeloid leukemia or AML. Disclaimer: This material is intended for healthcare practitioners only. This use of Revumenib is under investigation and has not been approved by the FDA or any other regulatory agency worldwide. No conclusions of safety or efficacy can be drawn. Patient eligibility criteria apply. 1. Can you describe the REVEAL-Newly Diagnosed NPM1m trial? The REVEAL-ND NPM1m trial is evaluating whether the addition of revumenib, a menin inhibitor, to standard chemotherapy improves outcomes in newly diagnosed patients with NPM1-mutated AML compared with chemotherapy alone. It is a global, phase 3, double-blind, trial in which participants will be randomized to receive standard intravenous chemotherapy with either oral revumenib or placebo. 2. What is the trial evaluating? The trial is designed to assess whether this combination improves key clinical outcomes. The dual primary endpoints are event-free survival and measurable residual disease -negative complete response rate in the bone marrow. A key secondary endpoint is overall survival. Other secondary endpoints include overall response rate, complete response rate, composite complete remission, duration of response, safety and tolerability, and patient-reported fatigue. 3. What is the study design? Participants are randomized 1:1 to receive oral revumenib 270 mg Q12 without a strong CYP3A4 inhibitor or revumenib 160 mg Q12 with a strong CYP3A4 inhibitor or placebo in combination with intensive chemotherapy during Induction and Consolidation followed by Maintenance. Intensive chemotherapy consists of cytarabine and daunorubicin or idarubicin in the Induction Phase and cytarabine alone in the Consolidation Phase. The Maintenance Phase will consist of revumenib or placebo given twice daily as monotherapy. Oral revumenib or placebo administration will continue for up to 2 years from Induction Cycle 1 Day 1. Bone marrow aspirates/biopsies will be collected to assess response. Participants may undergo hematopoietic stem cell transplant after initial induction chemotherapy or after consolidation and may resume maintenance thereafter. 4. Who is eligible for the trial? Individuals from all backgrounds and communities are welcome to take part in the trial. Participants may be eligible if they have newly diagnosed, previously untreated, centrally confirmed NPM1 mutated AML and are eligible to receive intensive chemotherapy. Adolescents and adults ≥12 years of age are eligible. Participants must have adequate liver, kidney, and cardiac function. Key exclusions include pregnancy or breastfeeding, active acute promyelocytic leukemia, active central nervous system (CNS) disease, gastrointestinal (GI) disease that affects drug absorption or indigestion, AML with FLT3-ITD mutation with a variant allele frequency of ≥5%, or if FLT3 inhibitor use is indicated. 5. Where is REVEAL-ND NPM1m enrolling? The trial plans to enroll approximately 468 patients globally. Recruitment is planned across North America, Latin America, Europe, the Middle East, and the Asia-Pacific region. 6. If our viewers have participants who would potentially benefit from participating in the REVEAL-ND trial, how should they inquire about study enrollment? The study has an Email address for potential participant enrollment: REVEALsiteinquiries@syndax.com. 7. How about if a hospital/healthcare organization would like to participate in the REVEAL-ND trial? The center should contact the study managers, through the same Email address: REVEALsiteinquiries@syndax.com. Use of revumenib in this setting is investigational and is not approved for this use by the FDA or any health authority worldwide. References: https://clinicaltrials.gov/study/NCT07211958#study-plan Stein E, Issa G, Rego E, et al. A Phase 3 Study of Revumenib in Combination With Intensive Chemotherapy in Patients With Newly Diagnosed NPM1-Mutated Acute Myeloid Leukemia (REVEAL- ND NPM1): Trial in Progress. TPS6602 Poster presented at: 2026 ASCO Annual Meeting; May 29-June 2, 2026; Chicago, IL Disclaimer: This presentation is sponsored by Syndax. The speaker is being compensated by Syndax for his time and participation in this presentation. The information contained herein is intended solely for educational and informational purposes © 2026 Syndax Pharmaceuticals, Inc. All rights reserved. MED-REV-260086 09/2026.

My name is Dr. Joshua Zeidner, and I’m a Professor of Medicine and Chief of Leukemia Research at the University of North Carolina Lineberger Cancer Center. I’m here today to raise awareness around an active global, phase 3, double-blind trial evaluating a combination regimen for participants with a specific type of acute myeloid leukemia or AML.

Disclaimer: This material is intended for healthcare practitioners only. This use of Revumenib is under investigation and has not been approved by the FDA or any other regulatory agency worldwide. No conclusions of safety or efficacy can be drawn. Patient eligibility criteria apply.

1. Can you describe the REVEAL-Newly Diagnosed NPM1m trial?
The REVEAL-ND NPM1m trial is evaluating whether the addition of revumenib, a menin inhibitor, to standard chemotherapy improves outcomes in newly diagnosed patients with NPM1-mutated AML compared with chemotherapy alone. It is a global, phase 3, double-blind, trial in which participants will be randomized to receive standard intravenous chemotherapy with either oral revumenib or placebo.

2. What is the trial evaluating?
The trial is designed to assess whether this combination improves key clinical outcomes. The dual primary endpoints are event-free survival and measurable residual disease -negative complete response rate in the bone marrow. A key secondary endpoint is overall survival. Other secondary endpoints include overall response rate, complete response rate, composite complete remission, duration of response, safety and tolerability, and patient-reported fatigue.

3. What is the study design?
Participants are randomized 1:1 to receive oral revumenib 270 mg Q12 without a strong CYP3A4 inhibitor or revumenib 160 mg Q12 with a strong CYP3A4 inhibitor or placebo in combination with intensive chemotherapy during Induction and Consolidation followed by Maintenance. Intensive chemotherapy consists of cytarabine and daunorubicin or idarubicin in the Induction Phase and cytarabine alone in the Consolidation Phase. The Maintenance Phase will consist of revumenib or placebo given twice daily as monotherapy. Oral revumenib or placebo administration will continue for up to 2 years from Induction Cycle 1 Day 1. Bone marrow aspirates/biopsies will be collected to assess response. Participants may undergo hematopoietic stem cell transplant after initial induction chemotherapy or after consolidation and may resume maintenance thereafter.

4. Who is eligible for the trial?
Individuals from all backgrounds and communities are welcome to take part in the trial. Participants may be eligible if they have newly diagnosed, previously untreated, centrally confirmed NPM1 mutated AML and are eligible to receive intensive chemotherapy. Adolescents and adults ≥12 years of age are eligible. Participants must have adequate liver, kidney, and cardiac function.
Key exclusions include pregnancy or breastfeeding, active acute promyelocytic leukemia, active central nervous system (CNS) disease, gastrointestinal (GI) disease that affects drug absorption or indigestion, AML with FLT3-ITD mutation with a variant allele frequency of ≥5%, or if FLT3 inhibitor use is indicated.

5. Where is REVEAL-ND NPM1m enrolling?
The trial plans to enroll approximately 468 patients globally. Recruitment is planned across North America, Latin America, Europe, the Middle East, and the Asia-Pacific region.

6. If our viewers have participants who would potentially benefit from participating in the REVEAL-ND trial, how should they inquire about study enrollment?
The study has an Email address for potential participant enrollment: [email protected].

7. How about if a hospital/healthcare organization would like to participate in the REVEAL-ND trial?
The center should contact the study managers, through the same Email address: [email protected].

Use of revumenib in this setting is investigational and is not approved for this use by the FDA or any health authority worldwide.

References:
https://clinicaltrials.gov/study/NCT07211958#study-plan
Stein E, Issa G, Rego E, et al. A Phase 3 Study of Revumenib in Combination With Intensive Chemotherapy in Patients With Newly Diagnosed NPM1-Mutated Acute Myeloid Leukemia (REVEAL- ND NPM1): Trial in Progress. TPS6602 Poster presented at: 2026 ASCO Annual Meeting; May 29-June 2, 2026; Chicago, IL

Disclaimer: This presentation is sponsored by Syndax. The speaker is being compensated by Syndax for his time and participation in this presentation. The information contained herein is intended solely for educational and informational purposes © 2026 Syndax Pharmaceuticals, Inc. All rights reserved. MED-REV-260086 09/2026.

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YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLi0zWjVrcmY0amFn

Revumenib + Chemotherapy in Newly Diagnosed AML With NPM1 Mutation: Phase 3 REVEAL-ND Study

CheckRare September 23, 2026 11:09 am

The FDA announced the approval of Isembyld (apitegromab-mstn) to treat patients 2 yrs and older with spinal muscular atrophy who are currently receiving SMN2-targeted therapy. SMA is a genetic condition in which patients lose spinal muscle function due to a mutation in the SMN1 gene. There are three therapies for this condition: one is a gene therapy that replaces the SMN1 gene, and the other two, significantly cheaper therapies, increase the activity of a backup gene, SMN2, to increase the missing SMN protein.  This new drug is an add-on therapy to those two latter therapies that target SMN2.  It will be interesting to see how payers and physicians decide where this fits, particularly when you're treating a relatively small patient population with very expensive therapies. There's another interesting piece to this approval. Scholar Rock received a pediatric priority review voucher. These vouchers are intended to encourage companies to develop treatments for children, something that historically has been more difficult because pediatric clinical trials can be challenging to conduct. We're seeing pharmaceutical companies increasingly pursue these opportunities. The FDA also approved a gene therapy for MPS IIIa, also referred to as Sanfilippo syndrome type A.   MPS IIIa is a devastating disease. These children start out looking very healthy, but as toxic levels of heparin sulfate accumulates in their cells, these children begin a cognitive and behavioural decline that completely disrupts the family. The results from the study leading to the approval is impressive. Instead of the typical cognitive decline seen in these children, adding gene therapy stabilized or improved their cognitive abilities. The therapy is priced at $3.9 million for a single treatment. That's obviously an enormous dollar amount, and payers generally don't like paying that kind of cost upfront, even when a one-time therapy could potentially be less expensive over the long term than years of continuous treatment. It's also an important moment for Ultragenyx. This is their second FDA approval in the last month, and they've established 25 centers capable of delivering the gene therapy, with plans to expand that to 40. So this isn't just about getting therapy approved. It's also about building the infrastructure to actually get these therapies to patients. The FDA's Center for Devices and Radiological Health (CDHR) introduced its Rare Disease Impact Initiative.  While we tend to focus on drug therapies to manage patients with rare conditions, there are many diseases that rely on medical devices to manage and/or monitor patients. At last count, the FDA listed over 2000 devices that are being used to help people with rare conditions.  The FDA's Rare Disease Impact Initiative is designed to help medical-device developers work more directly with the FDA as they develop products for rare disease populations. It's another part of the rare disease ecosystem that we think deserves more attention. Looking Ahead Several important FDA decisions are coming up. September 26: Mirum's therapy for fibrodysplasia ossificans progressiva, or FOP. September 27: Tlevar Therapeutics' therapy for cholangiocarcinoma and Praxis' therapy for SCN2A and SCN8A deficiencies. September 28: Egetis Therapeutics' orphan drug to treat patients with  MCT8 deficiency. References FDA approves new SMA drug https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-therapy-target-muscle-loss-spinal-muscular-atrophy FDA approves gene therapy for MPS IIIA https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-pediatric-patients-sanfilippo-syndrome-type  CDRH Rare Disease Impact Initiative https://www.fda.gov/about-fda/center-devices-and-radiological-health/cdrh-rare-disease-impact-initiative  Produced by CheckRare. Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news. Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

The FDA announced the approval of Isembyld (apitegromab-mstn) to treat patients 2 yrs and older with spinal muscular atrophy who are currently receiving SMN2-targeted therapy.

SMA is a genetic condition in which patients lose spinal muscle function due to a mutation in the SMN1 gene. There are three therapies for this condition: one is a gene therapy that replaces the SMN1 gene, and the other two, significantly cheaper therapies, increase the activity of a backup gene, SMN2, to increase the missing SMN protein. 

This new drug is an add-on therapy to those two latter therapies that target SMN2. 

It will be interesting to see how payers and physicians decide where this fits, particularly when you're treating a relatively small patient population with very expensive therapies.

There's another interesting piece to this approval. Scholar Rock received a pediatric priority review voucher. These vouchers are intended to encourage companies to develop treatments for children, something that historically has been more difficult because pediatric clinical trials can be challenging to conduct. We're seeing pharmaceutical companies increasingly pursue these opportunities.

The FDA also approved a gene therapy for MPS IIIa, also referred to as Sanfilippo syndrome type A.  
MPS IIIa is a devastating disease. These children start out looking very healthy, but as toxic levels of heparin sulfate accumulates in their cells, these children begin a cognitive and behavioural decline that completely disrupts the family.

The results from the study leading to the approval is impressive. Instead of the typical cognitive decline seen in these children, adding gene therapy stabilized or improved their cognitive abilities.
The therapy is priced at $3.9 million for a single treatment. That's obviously an enormous dollar amount, and payers generally don't like paying that kind of cost upfront, even when a one-time therapy could potentially be less expensive over the long term than years of continuous treatment.

It's also an important moment for Ultragenyx. This is their second FDA approval in the last month, and they've established 25 centers capable of delivering the gene therapy, with plans to expand that to 40.
So this isn't just about getting therapy approved. It's also about building the infrastructure to actually get these therapies to patients.

The FDA's Center for Devices and Radiological Health (CDHR) introduced its Rare Disease Impact Initiative. 
While we tend to focus on drug therapies to manage patients with rare conditions, there are many diseases that rely on medical devices to manage and/or monitor patients. At last count, the FDA listed over 2000 devices that are being used to help people with rare conditions. 
The FDA's Rare Disease Impact Initiative is designed to help medical-device developers work more directly with the FDA as they develop products for rare disease populations.
It's another part of the rare disease ecosystem that we think deserves more attention.

Looking Ahead
Several important FDA decisions are coming up.
September 26: Mirum's therapy for fibrodysplasia ossificans progressiva, or FOP.
September 27: Tlevar Therapeutics' therapy for cholangiocarcinoma and Praxis' therapy for SCN2A and SCN8A deficiencies.
September 28: Egetis Therapeutics' orphan drug to treat patients with  MCT8 deficiency.

References
FDA approves new SMA drug
https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-therapy-target-muscle-loss-spinal-muscular-atrophy

FDA approves gene therapy for MPS IIIA
https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-pediatric-patients-sanfilippo-syndrome-type 

CDRH Rare Disease Impact Initiative
https://www.fda.gov/about-fda/center-devices-and-radiological-health/cdrh-rare-disease-impact-initiative 


Produced by CheckRare.

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLmdKUzRCcXdZbXJz

FDA Approves New Therapies for MPS IIIA and SMA

CheckRare September 23, 2026 8:52 am

This week we discuss the FDA's approval of Isembyld for SMA, the approval of a gene therapy for MPS IIIA, and the FDA's Center for Devices and Radiological Health new Rare Disease Impact Initiative. Approval of Isembyld for Spinal Muscular Atrophy The FDA announced the approval of Isembyld (apitegromab-mstn) to treat patients 2 yrs and older with spinal muscular atrophy who are currently receiving SMN2-targeted therapy. SMA is a genetic condition in which patients lose spinal muscle function due to a mutation in the SMN1 gene. There are three therapies for this condition: one is a gene therapy that replaces the SMN1 gene, and the other two, significantly cheaper therapies, increase the activity of a backup gene, SMN2, to increase the missing SMN protein. This new drug is an add-on therapy to those two latter therapies that target SMN2. It will be interesting to see how payers and physicians decide where this fits, particularly when you're treating a relatively small patient population with very expensive therapies. There's another interesting piece to this approval. Scholar Rock received a pediatric priority review voucher. These vouchers are intended to encourage companies to develop treatments for children, something that historically has been more difficult because pediatric clinical trials can be challenging to conduct. We're seeing pharmaceutical companies increasingly pursue these opportunities. Gene Therapy Approved for MPS IIIA The FDA also approved a gene therapy for MPS IIIa, also referred to as Sanfilippo syndrome type A. MPS IIIa is a devastating disease. These children start out looking very healthy, but as toxic levels of heparin sulfate accumulates in their cells, these children begin a cognitive and behavioural decline that completely disrupts the family. The results from the study leading to the approval is impressive. Instead of the typical cognitive decline seen in these children, adding gene therapy stabilized or improved their cognitive abilities. The therapy is priced at $3.9 million for a single treatment. That's obviously an enormous dollar amount, and payers generally don't like paying that kind of cost upfront, even when a one-time therapy could potentially be less expensive over the long term than years of continuous treatment. It's also an important moment for Ultragenyx. This is their second FDA approval in the last month, and they've established 25 centers capable of delivering the gene therapy, with plans to expand that to 40. So this isn't just about getting therapy approved. It's also about building the infrastructure to actually get these therapies to patients. Rare Disease Impact Initiative The FDA's Center for Devices and Radiological Health (CDHR) introduced its Rare Disease Impact Initiative. While we tend to focus on drug therapies to manage patients with rare conditions, there are many diseases that rely on medical devices to manage and/or monitor patients. At last count, the FDA listed over 2000 devices that are being used to help people with rare conditions. The FDA's Rare Disease Impact Initiative is designed to help medical-device developers work more directly with the FDA as they develop products for rare disease populations. It's another part of the rare disease ecosystem that we think deserves more attention. Looking Ahead Several important FDA decisions are coming up. September 26: Mirum's therapy for fibrodysplasia ossificans progressiva, or FOP. September 27: Tlevar Therapeutics' therapy for cholangiocarcinoma and Praxis' therapy for SCN2A and SCN8A deficiencies. September 28: Egetis Therapeutics' orphan drug to treat patients with MCT8 deficiency. References FDA approves new SMA drug https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-therapy-target-muscle-loss-spinal-muscular-atrophy FDA approves gene therapy for MPS IIIA https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-pediatric-patients-sanfilippo-syndrome-type CDRH Rare Disease Impact Initiative https://www.fda.gov/about-fda/center-devices-and-radiological-health/cdrh-rare-disease-impact-initiative

This week we discuss the FDA's approval of Isembyld for SMA, the approval of a gene therapy for MPS IIIA, and the FDA's Center for Devices and Radiological Health new Rare Disease Impact Initiative.

Approval of Isembyld for Spinal Muscular Atrophy

The FDA announced the approval of Isembyld (apitegromab-mstn) to treat patients 2 yrs and older with spinal muscular atrophy who are currently receiving SMN2-targeted therapy.

SMA is a genetic condition in which patients lose spinal muscle function due to a mutation in the SMN1 gene. There are three therapies for this condition: one is a gene therapy that replaces the SMN1 gene, and the other two, significantly cheaper therapies, increase the activity of a backup gene, SMN2, to increase the missing SMN protein.

This new drug is an add-on therapy to those two latter therapies that target SMN2.

It will be interesting to see how payers and physicians decide where this fits, particularly when you're treating a relatively small patient population with very expensive therapies.

There's another interesting piece to this approval. Scholar Rock received a pediatric priority review voucher. These vouchers are intended to encourage companies to develop treatments for children, something that historically has been more difficult because pediatric clinical trials can be challenging to conduct. We're seeing pharmaceutical companies increasingly pursue these opportunities.

Gene Therapy Approved for MPS IIIA

The FDA also approved a gene therapy for MPS IIIa, also referred to as Sanfilippo syndrome type A.

MPS IIIa is a devastating disease. These children start out looking very healthy, but as toxic levels of heparin sulfate accumulates in their cells, these children begin a cognitive and behavioural decline that completely disrupts the family.

The results from the study leading to the approval is impressive. Instead of the typical cognitive decline seen in these children, adding gene therapy stabilized or improved their cognitive abilities.

The therapy is priced at $3.9 million for a single treatment. That's obviously an enormous dollar amount, and payers generally don't like paying that kind of cost upfront, even when a one-time therapy could potentially be less expensive over the long term than years of continuous treatment.

It's also an important moment for Ultragenyx. This is their second FDA approval in the last month, and they've established 25 centers capable of delivering the gene therapy, with plans to expand that to 40.

So this isn't just about getting therapy approved. It's also about building the infrastructure to actually get these therapies to patients.

Rare Disease Impact Initiative

The FDA's Center for Devices and Radiological Health (CDHR) introduced its Rare Disease Impact Initiative.

While we tend to focus on drug therapies to manage patients with rare conditions, there are many diseases that rely on medical devices to manage and/or monitor patients. At last count, the FDA listed over 2000 devices that are being used to help people with rare conditions.

The FDA's Rare Disease Impact Initiative is designed to help medical-device developers work more directly with the FDA as they develop products for rare disease populations.

It's another part of the rare disease ecosystem that we think deserves more attention.

Looking Ahead

Several important FDA decisions are coming up.

September 26: Mirum's therapy for fibrodysplasia ossificans progressiva, or FOP.

September 27: Tlevar Therapeutics' therapy for cholangiocarcinoma and Praxis' therapy for SCN2A and SCN8A deficiencies.

September 28: Egetis Therapeutics' orphan drug to treat patients with MCT8 deficiency.

References

FDA approves new SMA drug

https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-therapy-target-muscle-loss-spinal-muscular-atrophy

FDA approves gene therapy for MPS IIIA

https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-pediatric-patients-sanfilippo-syndrome-type

CDRH Rare Disease Impact Initiative

https://www.fda.gov/about-fda/center-devices-and-radiological-health/cdrh-rare-disease-impact-initiative

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YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLmRZejgzZWEzdDJN

FDA Approves New Therapies for MPS IIIA and SMA | The CheckRare Brief Ep 8

CheckRare September 22, 2026 5:31 pm

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies. Topic covered in this video segment is how well the medical team works together and understands Fabry disease. This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics Faculty Dawn Laney, MS, CGC, CCRC Genetic Counselor, Division of Medical Genetics Program Leader, Lysosomal Storage Disease Center Emory University School of Medicine Disclosures Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi Member: North American and International Fabry Registry Boards Staci Kallish, DO Associate Professor of Clinical Medicine Division of Translational Medicine and Human Genetics Perelman School of Medicine, University of Pennsylvania Disclosures Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics Idorsia Therapeutics, Incyte , Ipsen, and Sanofi Consulting: Amicus Therapeutics, Sanofi Advisory board: Amicus Therapeutics, Intrabio, Sanofi Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi Learning Objective Upon completion of this program, participants will be able to: • Orchestrate a cohesive, multidisciplinary team approach to care.

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies.

Topic covered in this video segment is how well the medical team works together and understands Fabry disease.

This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics

Faculty
Dawn Laney, MS, CGC, CCRC
Genetic Counselor, Division of Medical Genetics
Program Leader, Lysosomal Storage Disease Center
Emory University School of Medicine
Disclosures
Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi
Member: North American and International Fabry Registry Boards

Staci Kallish, DO
Associate Professor of Clinical Medicine
Division of Translational Medicine and Human Genetics
Perelman School of Medicine, University of Pennsylvania
Disclosures
Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics
Idorsia Therapeutics, Incyte , Ipsen, and Sanofi
Consulting: Amicus Therapeutics, Sanofi
Advisory board: Amicus Therapeutics, Intrabio, Sanofi
Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi

Learning Objective
Upon completion of this program, participants will be able to:
• Orchestrate a cohesive, multidisciplinary team approach to care.

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YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLlFtVDNmSjBleE5z

Fabry Disease: How Well Does Your Medical Team Work Together and Understand Fabry Disease?

CheckRare September 22, 2026 11:27 am

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies. Topic covered in this video segment is whether the risk of kidney failure is being properly addressed by medical teams. This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics Faculty Dawn Laney, MS, CGC, CCRC Genetic Counselor, Division of Medical Genetics Program Leader, Lysosomal Storage Disease Center Emory University School of Medicine Disclosures Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi Member: North American and International Fabry Registry Boards Staci Kallish, DO Associate Professor of Clinical Medicine Division of Translational Medicine and Human Genetics Perelman School of Medicine, University of Pennsylvania Disclosures Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics Idorsia Therapeutics, Incyte , Ipsen, and Sanofi Consulting: Amicus Therapeutics, Sanofi Advisory board: Amicus Therapeutics, Intrabio, Sanofi Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi Learning Objective Upon completion of this program, participants will be able to: • Identify and overcome barriers to managing kidney concerns in patients with Fabry disease.

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies.

Topic covered in this video segment is whether the risk of kidney failure is being properly addressed by medical teams.

This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics

Faculty
Dawn Laney, MS, CGC, CCRC
Genetic Counselor, Division of Medical Genetics
Program Leader, Lysosomal Storage Disease Center
Emory University School of Medicine
Disclosures
Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi
Member: North American and International Fabry Registry Boards

Staci Kallish, DO
Associate Professor of Clinical Medicine
Division of Translational Medicine and Human Genetics
Perelman School of Medicine, University of Pennsylvania
Disclosures
Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics
Idorsia Therapeutics, Incyte , Ipsen, and Sanofi
Consulting: Amicus Therapeutics, Sanofi
Advisory board: Amicus Therapeutics, Intrabio, Sanofi
Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi

Learning Objective
Upon completion of this program, participants will be able to:
• Identify and overcome barriers to managing kidney concerns in patients with Fabry disease.

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YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLjdQMW1za3g5LWln

Fabry Disease: Is The Risk of Kidney Failure Being Properly Managed By Your Medical Team?

CheckRare September 22, 2026 11:27 am

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies. Topic covered in this video segment is whether the risk of stroke or heart failure is being properly addressed by medical teams. This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics Faculty Dawn Laney, MS, CGC, CCRC Genetic Counselor, Division of Medical Genetics Program Leader, Lysosomal Storage Disease Center Emory University School of Medicine Disclosures Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi Member: North American and International Fabry Registry Boards Staci Kallish, DO Associate Professor of Clinical Medicine Division of Translational Medicine and Human Genetics Perelman School of Medicine, University of Pennsylvania Disclosures Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics Idorsia Therapeutics, Incyte , Ipsen, and Sanofi Consulting: Amicus Therapeutics, Sanofi Advisory board: Amicus Therapeutics, Intrabio, Sanofi Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi Learning Objectives Upon completion of this program, participants will be able to: • Identify and overcome barriers to managing heart concerns in patients with Fabry disease.

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies.

Topic covered in this video segment is whether the risk of stroke or heart failure is being properly addressed by medical teams.

This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics

Faculty
Dawn Laney, MS, CGC, CCRC
Genetic Counselor, Division of Medical Genetics
Program Leader, Lysosomal Storage Disease Center
Emory University School of Medicine
Disclosures
Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi
Member: North American and International Fabry Registry Boards

Staci Kallish, DO
Associate Professor of Clinical Medicine
Division of Translational Medicine and Human Genetics
Perelman School of Medicine, University of Pennsylvania
Disclosures
Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics
Idorsia Therapeutics, Incyte , Ipsen, and Sanofi
Consulting: Amicus Therapeutics, Sanofi
Advisory board: Amicus Therapeutics, Intrabio, Sanofi
Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi

Learning Objectives
Upon completion of this program, participants will be able to:
• Identify and overcome barriers to managing heart concerns in patients with Fabry disease.

24 0

YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLlhrRkFfTW1HMkk4

Fabry Disease: Is The Risk of Stroke or Heart Failure Being Properly Managed By Your Medical Team?

CheckRare September 22, 2026 11:27 am

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies. The topic covered in this video clip is symptoms that patients believe are not being well managed by their medical team. This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics. Faculty Dawn Laney, MS, CGC, CCRC Genetic Counselor, Division of Medical Genetics Program Leader, Lysosomal Storage Disease Center Emory University School of Medicine Disclosures Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi Member: North American and International Fabry Registry Boards Staci Kallish, DO Associate Professor of Clinical Medicine Division of Translational Medicine and Human Genetics Perelman School of Medicine, University of Pennsylvania Disclosures Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics Idorsia Therapeutics, Incyte , Ipsen, and Sanofi Consulting: Amicus Therapeutics, Sanofi Advisory board: Amicus Therapeutics, Intrabio, Sanofi Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi Learning Objectives Upon completion of this program, participants will be able to: • Recognize the real-world burdens facing Fabry patients and implement strategies to alleviate them.

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies.

The topic covered in this video clip is symptoms that patients believe are not being well managed by their medical team.

This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics.

Faculty
Dawn Laney, MS, CGC, CCRC
Genetic Counselor, Division of Medical Genetics
Program Leader, Lysosomal Storage Disease Center
Emory University School of Medicine
Disclosures
Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi
Member: North American and International Fabry Registry Boards

Staci Kallish, DO
Associate Professor of Clinical Medicine
Division of Translational Medicine and Human Genetics
Perelman School of Medicine, University of Pennsylvania
Disclosures
Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics
Idorsia Therapeutics, Incyte , Ipsen, and Sanofi
Consulting: Amicus Therapeutics, Sanofi
Advisory board: Amicus Therapeutics, Intrabio, Sanofi
Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi

Learning Objectives
Upon completion of this program, participants will be able to:
• Recognize the real-world burdens facing Fabry patients and implement strategies to alleviate them.

26 0

YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLlloNWtMMEExcTdn

Fabry Disease: What Symptoms Should Be Better Managed By Your Medical Team?

CheckRare September 22, 2026 11:27 am

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies. Topics covered include 1) symptoms that patients believe are not being well managed by their medical team, 2) whether the risk of stroke or heart failure is being properly addressed by medical teams, 3) whether the risk of kidney failure is being properly addressed by medical teams, and 4) how well the medical team works together and understands Fabry disease. This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics Faculty Dawn Laney, MS, CGC, CCRC Genetic Counselor, Division of Medical Genetics Program Leader, Lysosomal Storage Disease Center Emory University School of Medicine Disclosures Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi Member: North American and International Fabry Registry Boards Staci Kallish, DO Associate Professor of Clinical Medicine Division of Translational Medicine and Human Genetics Perelman School of Medicine, University of Pennsylvania Disclosures Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics Idorsia Therapeutics, Incyte , Ipsen, and Sanofi Consulting: Amicus Therapeutics, Sanofi Advisory board: Amicus Therapeutics, Intrabio, Sanofi Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi Learning Objectives Upon completion of this program, participants will be able to: • Recognize the real-world burdens facing Fabry patients and implement strategies to alleviate them. • Identify and overcome barriers to managing heart concerns in patients with Fabry disease. • Identify and overcome barriers to managing kidney concerns in patients with Fabry disease. • Orchestrate a cohesive, multidisciplinary team approach to care.

This educational program, hosted by Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader for the Lysosomal Storage Disease Center at Emory University, and Staci Kallish, DO, Associate Professor of Clinical Medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania, examines how best to respond to patients concerns about how their Fabry disease, and its comorbidities, are managed. This program features a dialogue between patients who express their unmet needs, while two renowned Fabry disease experts translate these challenges into actionable clinical strategies.

Topics covered include 1) symptoms that patients believe are not being well managed by their medical team, 2) whether the risk of stroke or heart failure is being properly addressed by medical teams, 3) whether the risk of kidney failure is being properly addressed by medical teams, and 4) how well the medical team works together and understands Fabry disease.

This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics


Faculty
Dawn Laney, MS, CGC, CCRC
Genetic Counselor, Division of Medical Genetics
Program Leader, Lysosomal Storage Disease Center
Emory University School of Medicine
Disclosures
Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi
Member: North American and International Fabry Registry Boards

Staci Kallish, DO
Associate Professor of Clinical Medicine
Division of Translational Medicine and Human Genetics
Perelman School of Medicine, University of Pennsylvania
Disclosures
Research grants: ashibio, Astellas Pharma, , Amicus Therapeutics
Idorsia Therapeutics, Incyte , Ipsen, and Sanofi
Consulting: Amicus Therapeutics, Sanofi
Advisory board: Amicus Therapeutics, Intrabio, Sanofi
Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi

Learning Objectives
Upon completion of this program, participants will be able to:
• Recognize the real-world burdens facing Fabry patients and implement strategies to alleviate them.
• Identify and overcome barriers to managing heart concerns in patients with Fabry disease.
• Identify and overcome barriers to managing kidney concerns in patients with Fabry disease.
• Orchestrate a cohesive, multidisciplinary team approach to care.

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YouTube Video VVVwMjl1aEZ4clBxSEo4dGJEZWZnci1nLlZDT1JMNi1jRnNV

Fabry Disease: Patients' Real-World Problems and How to Manage

CheckRare September 22, 2026 11:27 am

Biomarkers and Beyond: Integrating AI in Rare Disease Management

Biomarkers and Beyond: Integrating AI in Rare Disease Management

Staci Kallish, DO, Clinical Geneticist at Penn Medicine in Philadelphia, is helping to lead a new wave of innovation at the intersection of artificial intelligence (AI) and rare disease care.

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