Angela Zhu, MD, is an Ophthalmologist and Clinical Assistant Professor, Pediatric & Adult Cornea/Cataract/External Diseases, at Bascom Palmer Eye Institute in Miami. In this interview with
CheckRare, Dr. Zhu describes some of the key features of plasminogen deficiency and why ophthalmologists are often the healthcare providers who begin the process toward diagnosis.

Plasminogen deficiency type 1 (PLGD-1) is a rare genetic disorder in which the body fails to make adequate quantities of plasminogen, the molecule responsible for protection against abnormal fibrin clotting. It generally manifests initially (in about 80%) as ligneous conjunctivitis, in which thick membraneous lesions (from from fibrin accumulation) develop on the surface of the eye and in the eyelid. As a result, Dr. Zhu said, ophthalmologists are usually the first healthcare provider to see the patient and start the diagnostic journey.

Even though the ligneous lesions on the eye are generally the first symptom in young patients, PLGD-1 can present in many different ways (and in virtually any organ system with mucous membranes). However, fibrin accumulations in internal organs or tissue may be harder to detect.
The diagnosis may not be obvious, especially if the telltale ophthalmologic sign is misread as common infectious conjunctivitis. Patients with PLGD1 can have multiple other symptoms that wax and wane, said Dr. Zhu, and “we need to educate providers about the disease and how it can present. It is underdiagnosed and underrecognized.”

In patients with ligneous conjunctivitis, these fibrous lesions can first be mistaken for discharge, which is common in infectious conjunctivitis. But it doesn’t respond to treatment, unlike viral or bacterial causes of conjunctivitis would. Once the ligneous lesion is removed from the eye, because the plasminogen deficiency is not remedied, it will likely form again.

In the case of these eye lesions or conjunctivitis that doesn’t resolve with antiallergy, steroidal, or antiviral treatment, or grow back after removal, Dr. Zhu stated that laboratory testing for plasminogen activity and antigen testing should be the next step. It will diagnose the condition. “But it could take months before a provider makes the connection [that PLGD1 is the cause].”

The extravascular, fibrin-rich lesions that appear anywhere there is mucous membranes can cause serious or even life-threatening complications. For example, the growths could cause airway obstruction, renal failure if the kidney is involved, chronic hearing loss, or blindness.

“Prior to 2023, we didn’t have an FDA-approved treatment,” she noted. Fresh frozen plasma infusions, which had low plasminogen concentrations, were the mainstay. In 2023, the FDA approved a human-derived plasminogen infusion, which effectively raises plasminogen blood concentrations and ensures adequate plasminogen activity. Plasminogen infusions must be given every two to four days. Five years after initializing therapy, patients have remained free of new lesions, said Dr. Zhu.

The adverse events associated with the infusion include infusion-site reactions, bloating, nausea, and fatigue. She also related that there is a theoretical risk for introduction of infection (as it is a blood product). The fibrin-rich growths can suddenly slough off with therapy, and this could potentially cause unique problems (e.g., a sizeable lesion in the airway breaking off) or bleeding.

CHAPTERS
Introduction 00:00
Plasminogen Deficiency Type 1 Overview 00:56
Diagnostic Odyssey 2:36
Disease Complications 6:08

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Angela Zhu, MD, is an Ophthalmologist and Clinical Assistant Professor, Pediatric & Adult Cornea/Cataract/External Diseases, at Bascom Palmer Eye Institute in Miami. In this interview with
CheckRare, Dr. Zhu describes some of the key features of plasminogen deficiency and why ophthalmologists are often the healthcare providers who begin the process toward diagnosis.

Plasminogen deficiency type 1 (PLGD-1) is a rare genetic disorder in which the body fails to make adequate quantities of plasminogen, the molecule responsible for protection against abnormal fibrin clotting. It generally manifests initially (in about 80%) as ligneous conjunctivitis, in which thick membraneous lesions (from from fibrin accumulation) develop on the surface of the eye and in the eyelid. As a result, Dr. Zhu said, ophthalmologists are usually the first healthcare provider to see the patient and start the diagnostic journey.

Even though the ligneous lesions on the eye are generally the first symptom in young patients, PLGD-1 can present in many different ways (and in virtually any organ system with mucous membranes). However, fibrin accumulations in internal organs or tissue may be harder to detect.
The diagnosis may not be obvious, especially if the telltale ophthalmologic sign is misread as common infectious conjunctivitis. Patients with PLGD1 can have multiple other symptoms that wax and wane, said Dr. Zhu, and “we need to educate providers about the disease and how it can present. It is underdiagnosed and underrecognized.”

In patients with ligneous conjunctivitis, these fibrous lesions can first be mistaken for discharge, which is common in infectious conjunctivitis. But it doesn’t respond to treatment, unlike viral or bacterial causes of conjunctivitis would. Once the ligneous lesion is removed from the eye, because the plasminogen deficiency is not remedied, it will likely form again.

In the case of these eye lesions or conjunctivitis that doesn’t resolve with antiallergy, steroidal, or antiviral treatment, or grow back after removal, Dr. Zhu stated that laboratory testing for plasminogen activity and antigen testing should be the next step. It will diagnose the condition. “But it could take months before a provider makes the connection [that PLGD1 is the cause].”

The extravascular, fibrin-rich lesions that appear anywhere there is mucous membranes can cause serious or even life-threatening complications. For example, the growths could cause airway obstruction, renal failure if the kidney is involved, chronic hearing loss, or blindness.

“Prior to 2023, we didn’t have an FDA-approved treatment,” she noted. Fresh frozen plasma infusions, which had low plasminogen concentrations, were the mainstay. In 2023, the FDA approved a human-derived plasminogen infusion, which effectively raises plasminogen blood concentrations and ensures adequate plasminogen activity. Plasminogen infusions must be given every two to four days. Five years after initializing therapy, patients have remained free of new lesions, said Dr. Zhu.

The adverse events associated with the infusion include infusion-site reactions, bloating, nausea, and fatigue. She also related that there is a theoretical risk for introduction of infection (as it is a blood product). The fibrin-rich growths can suddenly slough off with therapy, and this could potentially cause unique problems (e.g., a sizeable lesion in the airway breaking off) or bleeding.

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Angela Zhu, MD, is an Ophthalmologist and Clinical Assistant Professor, Pediatric & Adult Cornea/Cataract/External Diseases, at Bascom Palmer Eye Institute in Miami. In this interview with
CheckRare, Dr. Zhu describes some of the key features of plasminogen deficiency and why ophthalmologists are often the healthcare providers who begin the process toward diagnosis.

Plasminogen deficiency type 1 (PLGD-1) is a rare genetic disorder in which the body fails to make adequate quantities of plasminogen, the molecule responsible for protection against abnormal fibrin clotting. It generally manifests initially (in about 80%) as ligneous conjunctivitis, in which thick membraneous lesions (from from fibrin accumulation) develop on the surface of the eye and in the eyelid. As a result, Dr. Zhu said, ophthalmologists are usually the first healthcare provider to see the patient and start the diagnostic journey.

Even though the ligneous lesions on the eye are generally the first symptom in young patients, PLGD-1 can present in many different ways (and in virtually any organ system with mucous membranes). However, fibrin accumulations in internal organs or tissue may be harder to detect.
The diagnosis may not be obvious, especially if the telltale ophthalmologic sign is misread as common infectious conjunctivitis. Patients with PLGD1 can have multiple other symptoms that wax and wane, said Dr. Zhu, and “we need to educate providers about the disease and how it can present. It is underdiagnosed and underrecognized.”

In patients with ligneous conjunctivitis, these fibrous lesions can first be mistaken for discharge, which is common in infectious conjunctivitis. But it doesn’t respond to treatment, unlike viral or bacterial causes of conjunctivitis would. Once the ligneous lesion is removed from the eye, because the plasminogen deficiency is not remedied, it will likely form again.

In the case of these eye lesions or conjunctivitis that doesn’t resolve with antiallergy, steroidal, or antiviral treatment, or grow back after removal, Dr. Zhu stated that laboratory testing for plasminogen activity and antigen testing should be the next step. It will diagnose the condition. “But it could take months before a provider makes the connection [that PLGD1 is the cause].”

The extravascular, fibrin-rich lesions that appear anywhere there is mucous membranes can cause serious or even life-threatening complications. For example, the growths could cause airway obstruction, renal failure if the kidney is involved, chronic hearing loss, or blindness.

“Prior to 2023, we didn’t have an FDA-approved treatment,” she noted. Fresh frozen plasma infusions, which had low plasminogen concentrations, were the mainstay. In 2023, the FDA approved a human-derived plasminogen infusion, which effectively raises plasminogen blood concentrations and ensures adequate plasminogen activity. Plasminogen infusions must be given every two to four days. Five years after initializing therapy, patients have remained free of new lesions, said Dr. Zhu.

The adverse events associated with the infusion include infusion-site reactions, bloating, nausea, and fatigue. She also related that there is a theoretical risk for introduction of infection (as it is a blood product). The fibrin-rich growths can suddenly slough off with therapy, and this could potentially cause unique problems (e.g., a sizeable lesion in the airway breaking off) or bleeding.

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Angela Zhu, MD, is an Ophthalmologist and Clinical Assistant Professor, Pediatric & Adult Cornea/Cataract/External Diseases, at Bascom Palmer Eye Institute in Miami. In this interview with
CheckRare, Dr. Zhu describes some of the key features of plasminogen deficiency and why ophthalmologists are often the healthcare providers who begin the process toward diagnosis.

Plasminogen deficiency type 1 (PLGD-1) is a rare genetic disorder in which the body fails to make adequate quantities of plasminogen, the molecule responsible for protection against abnormal fibrin clotting. It generally manifests initially (in about 80%) as ligneous conjunctivitis, in which thick membraneous lesions (from from fibrin accumulation) develop on the surface of the eye and in the eyelid. As a result, Dr. Zhu said, ophthalmologists are usually the first healthcare provider to see the patient and start the diagnostic journey.

Even though the ligneous lesions on the eye are generally the first symptom in young patients, PLGD-1 can present in many different ways (and in virtually any organ system with mucous membranes). However, fibrin accumulations in internal organs or tissue may be harder to detect.
The diagnosis may not be obvious, especially if the telltale ophthalmologic sign is misread as common infectious conjunctivitis. Patients with PLGD1 can have multiple other symptoms that wax and wane, said Dr. Zhu, and “we need to educate providers about the disease and how it can present. It is underdiagnosed and underrecognized.”

In patients with ligneous conjunctivitis, these fibrous lesions can first be mistaken for discharge, which is common in infectious conjunctivitis. But it doesn’t respond to treatment, unlike viral or bacterial causes of conjunctivitis would. Once the ligneous lesion is removed from the eye, because the plasminogen deficiency is not remedied, it will likely form again.

In the case of these eye lesions or conjunctivitis that doesn’t resolve with antiallergy, steroidal, or antiviral treatment, or grow back after removal, Dr. Zhu stated that laboratory testing for plasminogen activity and antigen testing should be the next step. It will diagnose the condition. “But it could take months before a provider makes the connection [that PLGD1 is the cause].”

The extravascular, fibrin-rich lesions that appear anywhere there is mucous membranes can cause serious or even life-threatening complications. For example, the growths could cause airway obstruction, renal failure if the kidney is involved, chronic hearing loss, or blindness.

“Prior to 2023, we didn’t have an FDA-approved treatment,” she noted. Fresh frozen plasma infusions, which had low plasminogen concentrations, were the mainstay. In 2023, the FDA approved a human-derived plasminogen infusion, which effectively raises plasminogen blood concentrations and ensures adequate plasminogen activity. Plasminogen infusions must be given every two to four days. Five years after initializing therapy, patients have remained free of new lesions, said Dr. Zhu.

The adverse events associated with the infusion include infusion-site reactions, bloating, nausea, and fatigue. She also related that there is a theoretical risk for introduction of infection (as it is a blood product). The fibrin-rich growths can suddenly slough off with therapy, and this could potentially cause unique problems (e.g., a sizeable lesion in the airway breaking off) or bleeding.

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Richard J. Auchus, MD, PhD, Professor of Internal Medicine and Pharmacology at the University of Michigan Medical School, discusses two-year results of Crenessity (crinecerfont) in the treatment of congenital adrenal hyperplasia (CAH).

CAH refers to a group of genetic conditions that affect the adrenal glands. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems.

At the 2026 American Association of Clinical Endocrinology (AACE) Annual Meeting, two-year data from the phase 3 CAHtalyst adult clinical trial of crinecerfont was presented. Crinecerfont is a potent and selective oral corticotropin-releasing factor type 1 receptor (CRF1) antagonist designed to reduce and control excess adrenocorticotropic hormone (ACTH) and adrenal androgens through a non-glucocorticoid (GC) mechanism.

The phase 3 CAHtalyst global registrational studies were designed to evaluate the safety, efficacy and tolerability of crinecerfont in children and adults with classic CAH due to 21-hydroxylase deficiency. The CAHtalyst Adult study included 182 adult patients ages 18 to 58 years. The study evaluated improvement of androgen control over four weeks of crinecerfont treatment and the enabling of GC reduction to physiologic range while androstenedione levels were maintained or improved over an additional 20 weeks of treatment.

At month 24 of the study, 69% (n=149) of participants achieved a physiologic GC dose, with many participants eliminating nonphysiologic GC types. Of participants originally taking dexamethasone (n=20), 75% switched to a dexamethasone-free regimen, while 62% (37/60) of patients taking more than two doses of hydrocortisone per day were able to eliminate a dose outright. GC dose reductions and regimen changes were achieved without worsening androstenedione levels relative to baseline, indicating that lowering the GC dose was not achieved at the expense of androgen control.

Long‑term treatment with crinecerfont was generally well tolerated, with more than 80% study retention at two years and no new safety signals observed.

Data from the CAHtalyst phase 3 studies supported approval of crinecerfont by the US Food and Drug Administration in December 2024. The open-label extension treatment portions of both studies are ongoing.  

Chronic exposure to supraphysiologic GC doses is associated with numerous long-term health risks, including cardiometabolic, bone health and quality-of-life complications. Reducing high-dose, long-term GC exposure represents one of the most important goals in the management of classic congenital adrenal hyperplasia (CAH).

To learn more about CAH and other rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/

CHAPTERS
Introduction 00:00
CAH Overview 00:13
Diagnosis and Current Management 1:50
Two-Year Results 3:10
Weight and Metabolic Outcomes 4:58

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Kinga Tomczak, MD, PhD, Program Director of the Tic Disorders and Tourette Syndrome Program at Boston Children’s Hospital and Assistant Professor of Neurology at Harvard Medical School, discusses phase 3 clinical trial results of ecopipam as a treatment for Tourette syndrome.

Tourette syndrome is a chronic childhood-onset neurodevelopmental disorder characterised by motor and phonic tics that can substantially diminish the quality of life of affected individuals. The underlying pathophysiology of Tourette syndrome is not fully understood, but recent research has brought new insights into the genetic variations and the alterations in neurophysiology and brain networks contributing to its pathogenesis. Tourette syndrome occurs more frequently in males, and males tend to have more severe symptoms than females. Tourette syndrome is often accompanied by comorbid behavioural disorders, including most prominently obsessive-compulsive behaviour and attention deficit disorders.

At the American Academy of Neurology 2026 Annual Meeting (AAN 2026), data was presented from a phase 3 study on the safety and efficacy of ecopipam for the treatment of Tourette syndrome. Ecopipam is a selective dopamine D1 receptor antagonist being investigated as a maintenance therapy in persons with Tourette syndrome.

In the study, patients ages 6 years and older with Tourette syndrome were included in a double-blind, placebo-controlled, randomized withdrawal trial. Ecopipam was titrated over 3 to 4 weeks with a target dose of 1.8 mg/kg/day in the 12 week open-label period. Patients with a clinically meaningful reduction of 25% or greater in Yale Global Tic Severity Scale Total Tic Score (YGTSS-TTS) at weeks 8 and 12 were randomized to continue ecopipam or taper to placebo in the 12 week double-blind period.

A total of 216 patients were enrolled in the 12 week open-label phase. Overall, 104 patients (90 pediatric) were randomized to the 12 week double-blind period to continue ecopipam or switch to placebo. The risk of relapse was significantly reduced in the ecopipam group compared with placebo in the pediatric and pediatric plus adult populations. The most commonly reported adverse events in the ecopipam group during the 24 week study were somnolence, anxiety, headache, insomnia, tic, and fatigue.

Overall, this study demonstrated ecopipam’s ability to maintain clinically meaningful improvements in Tourette syndrome symptoms. It was generally well-tolerated, with adverse events primarily affecting the central nervous syndrome and did not cause weight gain, dyslipidemia, or drug-induced movement disorders.

To read the abstract presented at AAN 2026, visit https://index.mirasmart.com/AAN2026/PDFfiles/AAN2026-004157.html

To learn more about rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/

CHAPTERS
Introduction 00:00
Tourette Syndrome Overview 00:21
Developing Treatments 3:46
Ecopipam Clinical Trial Data 5:23
Clinical Trial Design 11:12
Take Home Message 13:28

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Naji Gehchan, MD, MBA, Chief Medical and Development Officer at Kyverna Therapeutics, discusses new follow-up data on KYV-101 treatment for patients with myasthenia gravis (MG).

Generalized MG (gMG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eye and eyelid, facial expressions, chewing, talking, and swallowing. The condition results from a defect in the transmission of nerve impulses to muscles due to the presence of antibodies against the acetylcholine receptor. The exact reason this occurs is not known.

An update of KYSA-6 (NCT06193889) a phase 2, open-label, single-arm, multicenter study of KYV-101 in gMG was presented at the 2026 American Academy of Neurology Annual Meeting. KYV-101 is a fully human, autologous CD19 CAR T-cell therapy with CD28 costimulation, designed to achieve deep B-cell depletion and immune reset to deliver durable, drug-free, disease-free remission.

In the study, adults ages 18 to 75 years with gMG (MGFA class IIb-IV), history of AChR or MuSK autoantibodies, MG Activities of Daily Living (MG-ADL) score of 6 or greater, and 2 or more immunosuppressant/immunomodulator failures, received lymphodepletion and a single infusion of 1×10^8 CAR T cells.

As of October 2025, 6 patients were dosed and follow-up ranged from 28 days to 9 months. Robust CAR T-cell expansion and B-cell depletion occurred in all patients. With a single dose, 100% of patients had 3-point or greater improvements in MG-ADL from baseline, with 50% achieving minimal symptom expression at last follow-up. At 24 weeks, KYV-101 treatment resulted in 8.0-point and 7.7-point mean reductions from baseline in MG-ADL and QMG scores, respectively. Of the 6 patients, 5 became nonsteroidal immunosuppressant therapy-free. No ICANS and no high-grade CRS events occurred.

Overall, treatment with KYV-101 resulted in robust and sustained improvements in disease severity with an acceptable safety profile, while eliminating background immunosuppressants in the majority of patients. A phase 3 clinical study is ongoing.

To learn more about gMG and other rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/

CHAPTERS
Introduction 00:00
KYV-101 in Myasthenia Gravis 00:10
Next Steps 1:28

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William W. Motley, MD, RAP-219 Program Leader at Rapport Therapeutics, discusses follow-up data of RAP-219 for the treatment of focal onset seizures.

Focal onset seizures refer to abnormal neural activity in one brain area within one brain hemisphere with a fixed focal or localized onset. These seizures can manifest in various ways, with symptoms ranging from subtle sensory disturbances to more pronounced motor movements and altered consciousness. Focal onset seizures are divided into 2 subtypes: motor onset and nonmotor onset. The motor manifestations of focal motor onset seizures can be characterized as automatism, atonic, clonic, epileptic spasms, hyperkinetic, myoclonic, or tonic movements. The behavioral manifestations of focal nonmotor onset seizures can be described by autonomic, behavioral arrest, cognitive, emotional, or sensory symptoms.

At the 2026 American Academy of Neurology (AAN) Annual Meeting, results from the phase 2a trial of RAP-219 in patients with drug-resistant focal onset seizures (FOS) and an implanted responsive neurostimulator (RNS) system were presented. This included data from an 8 week follow-up period.

RAP-219 is a potential first-in-class, TARPγ8-specific AMPA receptor negative allosteric modulator. It is designed to target the TARPγ8 protein that is expressed in brain regions where focal seizures often originate. Because of this protein’s minimal expression in the hindbrain, it is hypothesized that the drug will avoid causing intolerable adverse events often associated with traditional neuroscience medications.

Patients with drug-resistant focal onset seizures, an RNS system, 16 or more long episodes, and 1 or more clinical seizure during an 8 week retrospective period were entered into a prospective baseline followed by an 8 week treatment period. Enrolled patients received RAP-219 0.75 mg/d (5d), then RAP-219 1.25 mg/d for the remainder of the treatment period, followed by an 8-week washout period. Patients had a median 8.5 CSs/28d at baseline. Patients had the RNS implanted a median 4.6 years before first RAP-219 dose and had a baseline median 48 LEs/28d with median 92% concordance between LEs and electrographic seizures.

As previously reported, primary endpoints were achieved with statistical significance. This included a 71% median reduction in long episodes with 85.2% of patients achieving at least a 30% reduction over the 8 week treatment period. Clinical seizures also showed a median 77.8% reduction with 72% of patients achieving a reduction of at least 50% over the treatment period. Additionally, 24% of patients achieved seizure freedom for the entire 8 week treatment period. The most common treatment-emergent adverse events in the safety population included dizziness, headache, fatigue, and falls.

Based on recent data and population PK modeling from the 8 week follow-up period, RAP-219 has demonstrated an approximately 22 day half life. An 80% reduction in median long episodes relative to baseline during the first four weeks of follow-up was observed, compared to 75% for the first four weeks of the initial treatment period. Follow-up also illustrated a 90% reduction in median clinical seizures relative to baseline during the first four weeks of follow-up, compared to 85% for the first four weeks of the treatment period. Continued significant reductions from baseline in both median long episodes and median clinical seizures in the last four-weeks of follow-up were also observed.

To learn more about rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/

CHAPTERS
Introduction 00:00
Overview of Focal Onset Seizures 00:14
RAP-219 Overview 1:02
Clinical Trial Data 2:29
RAP-219 Dosing Schedules 6:01
Take Home Message 7:00

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Brian Moseley, MD, Senior Medical Director at UCB, discusses the GEMZ clinical trial of fenfluramine in patients with CDKL5 deficiency disorder (CDD).

CDD is a rare genetic disorder characterized by difficult‑to‑control seizures and severe neuro‑developmental impairment. It’s caused by a mutation of the cyclin-dependent kinase-like 5 (CDKL5) gene, located on the X chromosome.

At the American Association of Neurology 2026 meeting, primary results were presented from the GEMZ (NCT05064878) clinical trial of fenfluramine in patients with CDD. GEMZ is a phase 3 randomized, double-blind, placebo-controlled, fixed-dose, multicenter study evaluating the safety and efficacy of fenfluramine. Fenfluramine is a phenethylamine that is structurally similar to serotonin that has been proven to be effective in treating pharmacoresistant seizures.

Patients were randomized to fenfluramine 0.7 mg/kg/day or placebo over 14 weeks (including a two week titration period [T] and a 12 week maintenance period [M]). The primary endpoint was countable motor seizure frequency (CMSF) percentage change from baseline over T+M versus placebo.

Safety and modified intent-to-treat populations included 87 and 86 patients, respectively. Most patients received 3 or more concomitant anti-seizure medications. Baseline median CMSF was 44 for patients on fenfluramine and 49 for patients on placebo.

Significant differences in efficacy endpoints were observed with fenfluramine versus placebo. Median percentage CMSF change was −47.6% for fenfluramine versus −2.8% for placebo. A total 45.2% of fenfluramine-treated patients achieved 50% or greater CMSF, compared to 4.5% of placebo patients. Additionally, 38.1% on fenfluramine versus 6.8% on placebo demonstrated clinically meaningful improvement on Clinical Global Impression–Improvement scale. Median percentage change in generalized tonic-clonic seizure frequency from baseline was −61.5% for fenfluramine (n=14) and −13.5% for placebo (n=18).

Four patients discontinued due to treatment-emergent adverse events. Of patients on fenfluramine, the most common adverse events were pyrexia, diarrhea, and somnolence. No new safety signals identified and no valvular heart disease or pulmonary arterial hypertension cases observed.

To learn more about CDD and other rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/

CHAPTERS
Introduction 00:00
CDKL5 Overview 00:12
GEMZ Clinical Trial Data 1:40
Next Steps 5:16
Targeted Diagnosis and Treatments 5:38
What Physicians Should Know 7:45

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