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Protocol Details

Studies of Genetic Heterogeneity in Patients with Lysosomal Storage Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

86-HG-0096

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Enrolling by Invitation
Gender: Male & Female
Min Age: 1 mo
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Variants;
Chemical Phenotype;
Enzyme;
Phenotype;
Glucocerebrosidase

Recruitment Keyword(s)

None

Condition(s)

Lysosomal Storage Disorders;
Gaucher Disease;
Parkinson Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.

There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient or inpatient basis in order to better characterize the clinical, genetic, and pathophysiological features of these disorders. Participants will be re-evaluated on an annual basis.

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Eligibility

INCLUSION/EXCLUSION CRITERIA:

For inclusion, the participant, of any age after birth, on initial screening must be found to have or be a carrier of a documented lysosomal storage disorder or be a family member of a documented proband. Healthy controls, > 18 years of age, will be recruited through the NIH healthy volunteer pool or we will invite unaffected spouses or relatives to participate. Healthy controls are necessary to determine the frequency of motor and non-motor symptoms in the general population. Parkinson disease patients, > 18 years of age, will be recruited from the Parkinson disease clinic at the NIH or by self-referral and will also be used for phenotypic comparison with GBA1-associated parkinsonism.

Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical or social conditions that would potentially increase the risk of participation will be excluded from enrolling in the study. There will be no exclusion based upon age, gender, ethnicity, socioeconomic status, or any other factor. Cognitively impaired individuals may be enrolled if the legal guardian or durable power of attorney (DPA) consents, and assent will be obtained, when appropriate because a significant portion of patients with neurodegenerative disorders may develop cognitive impairment and it is important to include this information in the clinical phenotype. Pregnant or nursing women will also be included because all evaluations and procedures in this protocol do not pose risk to the mother and the fetus as no radiation or imaging studies will be performed for research purpose. Pregancy in patients with GD and other lysosomal storage disorders presents specific challenges with regards to skeletal, hematological, and possibly visceral complications throughout gestation. It is important to capture the natural history of the disease during pregnancy to assess benefits of initiation/continuation/discontinuation of therapy depending on clinical signs and symptoms. Information obtained from participation of this population is of great value for counseling, prevention of complications, and prognostic implications. Participants are free to refuse any evaluation without affecting participation in this protocol.

These are generally pan-ethnic disorders. Efforts will be made to include any patient from an under-represented minority with these disorders.

Family members eligible/recruited include adult obligate carrier relatives, parents and siblings of Gaucher disease probands, and/or any relative with and without parkinsonism, where noncarriers volunteer for participation to serve as controls.

Eligibility criteria for healthy and PD control group participants include healthy participants recruited from the Healthy volunteers office or healthy non-mutation carriers family members who voluntarily agree to participate. Patients with Parkinson disease who do not carry GBA1 mutations are eligible to participate to serve as controls


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Citations:

Steward AM, Wiggs E, Lindstrom T, Ukwuani S, Ryan E, Tayebi N, Roshan Lal T, Lopez G, Schiffmann R, Sidransky E. Variation in cognitive function over time in Gaucher disease type 3. Neurology. 2019 Dec 10;93(24):e2272-e2283. doi: 10.1212/WNL.0000000000008618. Epub 2019 Nov 12. PMID: 31719137; PMCID: PMC6937490.

Gary SE, Ryan E, Steward AM, Sidransky E. Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab. 2018 Mar;13(2):107-118. doi: 10.1080/17446651.2018.1445524. Epub 2018 Mar 12. PMID: 30058864; PMCID: PMC6129380.

Lopez G, Steward A, Ryan E, Groden C, Wiggs E, Segal(SqrRoot)(Cross) L, Monestime GM, Tayebi N, Sidransky E. Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism. Mov Disord. 2020 Feb;35(2):359-365. doi: 10.1002/mds.27916. Epub 2019 Nov 30. PMID: 31785030.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Ellen Sidransky, M.D.
National Human Genome Research Institute (NHGRI)
BG 35A RM 1E-623
35A CONVENT DR
BETHESDA MD 20892
(301) 451-0901
ellen.sidransky@nih.gov

Ellen Sidransky, M.D.
National Human Genome Research Institute (NHGRI)
BG 35A RM 1E-623
35A CONVENT DR
BETHESDA MD 20892
(301) 451-0901
ellen.sidransky@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001215

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