What is a "Natural History of Disease"?

The NIH Campus in Bethesda, Maryland, USA.

The National Institutes of Health (NIH) is currently enrolling N-glycanase (NGLY1) deficiency patients into a study of the natural history of the disease.

The natural history of disease refers to a description of the uninterrupted progression of a disease in an individual until recovery or death.

Knowledge of the natural history of disease ranks alongside causal understanding in importance for disease prevention and control.

Natural history studies and registries also play a critical role in the drug discovery and development process.

Standardized natural history registries, tied to tissue banking, facilitate the generation of research leads, and accelerate studies examining associations between phenotype (disease-related physical and mental characteristics) and genotype.

Patient registries represent one of the best resources to collect prevalence, demographic, natural history, and comparative effectiveness data on rare diseases.

Currently, very few rare disease patient registries exist and where they do, they are often limited in their usefulness.

The NIH, FDA, and NORD are currently in the process of building a rare disease patient registry program to ensure rare disease patients have adequate natural history information in order to spur drug discovery and development.

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NIH CDG/NGLY1 Study - Now Recruiting!

Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	14-HG-0071
Sponsoring Institute	National Human Genome Research Institute (NHGRI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Max Age: 80
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Natural History; Glycosylation; Genetic Disorders
Recruitment Keyword(s)	None
Condition(s)	Congenital Disorders of Glycosylation
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Human Genome Research Institute

Background:

- Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly. People with congenital disorders of glycosylation (CDGs) cannot attach these sugars or sugar chains properly. A child or adult with a CDG can have symptoms in different parts of the body, including brain, nerves, muscles, liver, and immune system. Researchers want to learn more about these diseases to understand better what is causing the problems.

Objective:

- To learn more about CDGs.

Eligibility:

- People age 1 80 with CDG or suspected to have a CDG.

Design:

-CDG participants will stay in the hospital 3 5 days. They will have:

-Medical history and physical exam. They will answer questions about their CDG.

-Blood taken several times. Their skin will be numbed, then a needle will take blood from an arm vein.

-Samples taken of their skin, urine, and maybe stool and spinal fluid.

-Photos taken of their whole body. They can wear underwear and cover their eyes.

-Brain MRI. They will lie on a table that slides in and out of a metal cylinder. The scanner makes loud knocking noises so they can wear earplugs.

-Abdomen ultrasound. Sound waves take images of the body from the outside.

-Hand/wrist X-rays for young patients. They may have a full-body X-ray.

-DEXA bone density scan. Participants will lie on a table under a scanner.

-Echocardiogram and electrocardiogram for heart activity. Pads are stuck on the skin and the electrical activity of the heart is recorded.

-Tests of hearing, thinking, motor skills, and speech.

- Children participants may have tests done under sedation if it will benefit them directly.

- CDG participants may have other procedures during their visit. They may have follow-up visits every year.

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Eligibility

INCLUSION/EXCLUSION CRITERIA:

Patients of any gender and ethnicity age 1-80 years with a suspected CDG based on biochemical tests or a confirmed CDG based on enzymatic or molecular tests will be eligible to enroll in this protocol. Patients will also be excluded if they cannot travel to the NIH due to their medical condition. Infants under age one year or under 10 kg of body weight are excluded because care is more readily provided to older infants at the Clinical Center.

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Citations:

Apweiler R, Hermjakob H, Sharon N. On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database. Biochim Biophys Acta. 1999 Dec 6;1473(1):4-8.

Freeze HH. Genetic defects in the human glycome. Nat Rev Genet. 2006 Jul;7(7):537-51. Epub 2006 Jun 6. Review. Erratum in: Nat Rev Genet. 2006 Aug;7(8):660.

Hennet T. Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta. 2012 Sep;1820(9):1306-17. doi: 10.1016/j.bbagen.2012.02.001. Epub 2012 Feb 9.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Christina T. Lam, M.D. National Human Genome Research Institute (NHGRI)	Lynne A. Wolfe, C.R.N.P. National Human Genome Research Institute (NHGRI) BG 10-CRC RM 3-2551 10 CENTER DR BETHESDA MD 20814 (301) 443-8577 wolfela@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT02089789

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