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narcolepsy 1 - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

narcolepsy 1

MONDO:0008062

Also known as:HCRT narcolepsynarcolepsy caused by mutation in HCRTNRCLP1

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Overview

A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.

GeneticsAutosomal dominant · HCRT (chr 17)

Treatments2 FDA approved

Clinical Trials7 registered · 3 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Abnormal rapid eye movement sleep, Hypnagogic hallucination, and Excessive daytime somnolence; and very common findings: Cataplexy. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Hypnagogic hallucination, Excessive daytime somnolence, Hypnopompic hallucination

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HCRT encodes hypocretin neuropeptide precursor (131 aa). Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. Highest expression in Brain Hypothalamus (38.4 TPM) and Brain Nucleus accumbens basal ganglia (0.5 TPM).

Narcolepsy 1 is associated with mutations in the HCRT gene on chromosome 17.

HCRT is classified as a druggable target (Druggable Genome category) with score 52.2.

Diagnosis

Genetic testing for HCRT is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for narcolepsy 1 has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for narcolepsy 1, including SODIUM OXYBATE (LUMRYZ, approved 2023).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

7 clinical trials registered, 3 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 4 PHASE3, 2 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05615584](https://clinicaltrials.gov/study/NCT05615584)

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Financial & Access Support (External Programs)

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Narcolepsy Medical Assistance

Medical AssistanceWaitlistOperated by National Organization for Rare Disorders

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:161400

GARD

Genetic and Rare Diseases Info Center

GARD:15091

Questions for Your Care Team

→What are the benefits and potential side effects of LUMRYZ for managing narcolepsy 1?
→Are any of the 7 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for HCRT, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Research summaries	43	26%
Laboratory research	35	21%
Disease patterns and progression	33	20%
Clinical study results	19	12%
Testing and diagnosis research	14	9%
Patient case studies	11	7%
New treatment approaches	5	3%
Other research	4	2%

Kisho

narcolepsy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

narcolepsy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications